Axonal polyneuropathy and ataxia in children: consider Perrault Syndrome, a case report

Axonal polyneuropathy and ataxia in children: consider Perrault Syndrome, a case report

Abstract Background Perrault Syndrome (PRLTS) is a rare, autosomal recessive disorder that presents with bilateral sensorineural hearing loss in all patients and gonadal dysfunction in females. It has been linked to variants in CLPP, ERAL1, HARS2, HSD17B4, LARS2, and TWNK genes. All reported cases d...

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Main Authors: Hannah E. Munson (Author), Lenika De Simone (Author), Abigail Schwaede (Author), Avanti Bhatia (Author), Divakar S. Mithal (Author), Nancy Young (Author), Nancy Kuntz (Author), Vamshi K. Rao (Author)
Format: Book
Published: BMC, 2023-11-01T00:00:00Z.
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3rd Floor Main Library

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